gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00600055 (AFR)
Genomes Max Group AF
0.00510407 (AFR)
Exomes Max Group AF
0.00668212 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186079010G>A , CM000666.2:g.186079010G>A | GRCh38 |
| NC_000004.11:g.187000164G>A , CM000666.1:g.187000164G>A | GRCh37 |
| NC_000004.10:g.187237158G>A | NCBI36 |
| NG_007278.1:g.14856G>A , LRG_117:g.14856G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698351.1:c.612G>A | ENSP00000513674.1:p.Leu204= | |
| ENST00000698352.1:c.*164G>A | ENSP00000513675.1:n.*164G>A | |
| ENST00000296795.8:c.612G>A MANE Select | ENSP00000296795.3:p.Leu204= | |
| ENST00000296795.7:c.612G>A | ENSP00000296795.2:p.Leu204= | |
| ENST00000513189.1:c.612G>A | ENSP00000423386.1:p.Leu204= | |
| NM_003265.2:c.612G>A , LRG_117t1:c.612G>A | NP_003256.1:p.Leu204= | |
| NM_003265.3:c.612G>A MANE Select | NP_003256.1:p.Leu204= |